ClinVar for Gene (Select 10081) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305328	NM_005707.2(PDCD7):c.67G>C (p.Ala23Pro)	PDCD7 (A23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305327	NM_005707.2(PDCD7):c.44C>T (p.Pro15Leu)	PDCD7 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305326	NM_005707.2(PDCD7):c.46C>A (p.Pro16Thr)	PDCD7 (P16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305324	NM_005707.2(PDCD7):c.1408C>T (p.Pro470Ser)	PDCD7 (P470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210598	NM_005707.2(PDCD7):c.592G>A (p.Ala198Thr)	LOC130057312, PDCD7 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210597	NM_005707.2(PDCD7):c.343G>A (p.Gly115Arg)	PDCD7 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622693	NM_005707.2(PDCD7):c.998C>T (p.Ala333Val)	PDCD7 (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622590	NM_005707.2(PDCD7):c.181G>A (p.Ala61Thr)	LOC130057313, PDCD7 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618021	NM_005707.2(PDCD7):c.11C>T (p.Pro4Leu)	PDCD7 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614387	NM_005707.2(PDCD7):c.374C>T (p.Ala125Val)	LOC130057312, PDCD7 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611179	NM_005707.2(PDCD7):c.727C>T (p.Arg243Trp)	LOC130057312, PDCD7 (R243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608291	NM_005707.2(PDCD7):c.1240G>C (p.Asp414His)	PDCD7 (D414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599321	NM_005707.2(PDCD7):c.400G>T (p.Gly134Trp)	LOC130057312, PDCD7 (G134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598299	NM_005707.2(PDCD7):c.358C>T (p.Pro120Ser)	LOC130057312, PDCD7 (P120S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555912	NM_005707.2(PDCD7):c.692A>G (p.Tyr231Cys)	LOC130057312, PDCD7 (Y231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552160	NM_005707.2(PDCD7):c.76G>C (p.Gly26Arg)	PDCD7 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551206	NM_005707.2(PDCD7):c.1248T>G (p.Asp416Glu)	PDCD7 (D416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550130	NM_005707.2(PDCD7):c.932A>T (p.Asp311Val)	PDCD7 (D311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548799	NM_005707.2(PDCD7):c.722G>C (p.Arg241Thr)	LOC130057312, PDCD7 (R241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547320	NM_005707.2(PDCD7):c.160C>G (p.Pro54Ala)	LOC130057313, PDCD7 (P54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539337	NM_005707.2(PDCD7):c.751G>A (p.Glu251Lys)	PDCD7 (E251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524628	NM_005707.2(PDCD7):c.56C>T (p.Pro19Leu)	PDCD7 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490594	NM_005707.2(PDCD7):c.1412C>A (p.Pro471Gln)	PDCD7 (P471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386840	NM_005707.2(PDCD7):c.329C>A (p.Pro110Gln)	PDCD7 (P110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370805	NM_005707.2(PDCD7):c.467G>A (p.Arg156Gln)	LOC130057312, PDCD7 (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365467	NM_005707.2(PDCD7):c.193C>G (p.Arg65Gly)	LOC130057313, PDCD7 (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342874	NM_005707.2(PDCD7):c.241T>C (p.Tyr81His)	LOC130057313, PDCD7 (Y81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338753	NM_005707.2(PDCD7):c.289C>T (p.Pro97Ser)	PDCD7 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338041	NM_005707.2(PDCD7):c.1376A>G (p.Lys459Arg)	PDCD7 (K459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317060	NM_005707.2(PDCD7):c.797G>A (p.Arg266Gln)	PDCD7 (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309079	NM_005707.2(PDCD7):c.1397G>A (p.Gly466Glu)	PDCD7 (G466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270527	NM_005707.2(PDCD7):c.176C>T (p.Pro59Leu)	LOC130057313, PDCD7 (P59L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2256464	NM_005707.2(PDCD7):c.539G>A (p.Arg180Gln)	LOC130057312, PDCD7 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246870	NM_005707.2(PDCD7):c.1441G>C (p.Ala481Pro)	PDCD7 (A481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239470	NM_005707.2(PDCD7):c.1294C>T (p.Leu432Phe)	PDCD7 (L432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232549	NM_005707.2(PDCD7):c.1061G>A (p.Arg354Gln)	PDCD7 (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213422	NM_005707.2(PDCD7):c.713G>A (p.Arg238Lys)	LOC130057312, PDCD7 (R238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205757	NM_005707.2(PDCD7):c.313G>A (p.Glu105Lys)	PDCD7 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685962	GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3	RNU5A-1, SLC51B +12 more	Copy number gain	not provided	GUncertain significance
Select item 685961	GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3	RASL12, RNU5A-1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52